A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540488



Internal ID315245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:137941973..137941973hg38UCSC Ensembl
chr4:138863127..138863127hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16957938
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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